Genomic applications in Medicine & Health

The Genome Clinic Ltd. (Reg. England & Wales No. 09142004) is an independent specialist health service provider dealing with all forms of genetic & genomic diseases and genomic healthcare.

Genomic news and Genome Mirror

Recently global genomics community moved a step forward by coming closer through the creation of a shared framework for distributing and analyzing massively complex genomic information to facilitate medical progress and innovations. The framework, appropriately called the Global Genomic Alliance, includes leading research institutions and organizations actively engaged in genomics research in healthcare. Leaders of the alliance are the US National Institutes of Health (www.nih.gov), the Wellcome Trust Sanger Institute (Hinxton, Cambridgeshire, UK; www.sanger.ac.uk), and the Beijing Genomics Institute (www.genomics.cn). The alliance aims to focus on standardizing and sharing genomic and clinical data. The white paper (click attached) announcing setting up of the global alliance states, “the cost of genome sequencing has fallen one-million fold in the past several years, fuelling an explosion of information about the genetic basis of human health and disease.”

The global genomic alliance is open for commercial and not- for-profit organizations to join forces with other leading data, health care, research, and disease advocacy organizations to establish an evidence base for genomic research and medicine that adheres to the highest standards of ethics and privacy. So far, nearly 70 organizations in Asia, Australia, Africa, Europe, North America and South America who are committed to creating a common framework that supports data analysis and protects the autonomy and privacy of participating individuals. Signatories of an accompanying Letter of Intent to create a not-for-profit, inclusive, public–private, international, non-governmental organization include healthcare providers, research institutions, disease advocacy groups, life science and information technology companies.

Quotes from several leading partner organizations advocate and emphasize the need for this global genomic initiative (http://www.ebi.ac.uk/about/news/press-releases/Global-Alliance): “This is an excellent initiative and we are very proud to be a part of it,” says Janet Thornton, Director of the EMBL-European Bioinformatics Institute in the UK. “As part of the Global Alliance and members of ELIXIR, we can help make this vision a reality. Sharing data and information is at the heart of our mission, and developing resources that enable innovation is a large part of what we do. The European Genome-phenome Archive, the Embassy Cloud, and BioMedBridges are just a few projects at EMBL-EBI that can support the alliance’s technical standards for interoperability as well as for data access and security.”

“The ability to collect and analyse large amounts of genomic and clinical data presents a tremendous opportunity to learn about the underlying causes of cancer, inherited and infectious diseases, and responses to drugs,” says David Altshuler, Deputy Director of the Broad Institute of Harvard and MIT in the US. “However, we will only realize this opportunity if we can establish effective and ethically responsible approaches to share data. We believe that by working together, and by committing to the principle that each individual has the right to decide whether and how broadly to share their personal health information, we can accelerate progress in life sciences and medicine.”

“The European Genome-phenome Archive (EGA) is just one example of what the Global Alliance is trying to achieve,” adds Paul Flicek of EMBL-EBI. “It matches up genome data with other features while protecting key information about patients, but applying for access can be complicated. Streamlining the process for a researcher to gain access to these datasets would have a dramatic, positive impact on research.”

A disease might occur in one in 1,000 or one in 100,000 babies, according to Dr. David Altshuller, deputy director and chief academic officer at the Broad Institute of Harvard University (Cambridge, MA, USA) and the Massachusetts Institute of Technology (MIT, Cambridge, MA, USA; www.mit.edu). A medical center or even an experienced clinician might never see an affected child or might just see one, so no one ever learns.”

The Global Alliance will foster innovation in a number of ways, notably though the establishment of open standards supporting the development of interoperable information-technology platforms for biomedicine. These platforms will enable sharing and learning from data, wherever it may be stored.
To express an interest in joining the Global Genomic Alliance, please contact theglobalalliance@oicr.on.ca.

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